Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports

BACKGROUND: Arginase 1 deficiency (ARG1‐D) is a rare, progressive and debilitating urea cycle disorder characterized by clinical manifestations including spasticity, seizures, developmental delay, and intellectual disability. The aim of this systematic review was to identify and summarize the natura...

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Detalles Bibliográficos
Autores principales: Bin Sawad, Aseel, Pothukuchy, Arti, Badeaux, Mark, Hodson, Victoria, Bubb, Gillian, Lindsley, Kristina, Uyei, Jennifer, Diaz, George A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259395/
https://www.ncbi.nlm.nih.gov/pubmed/35822089
http://dx.doi.org/10.1002/jmd2.12283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259395/
https://www.ncbi.nlm.nih.gov/pubmed/35822089
http://dx.doi.org/10.1002/jmd2.12283

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